ABCMdb

PMID: 9476862

Rubenstein RC, Zeitlin PL
A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function.
Am J Respir Crit Care Med. 1998 Feb;157(2):484-90., [PubMed]

Sentences

No. Mutations Sentence Comment

169 ABCC7 p.Arg117His Other mutations that affect channel conductance, but not CFTR trafficking, (25) such as R117H (substitution of histidine residue at position 117 for an arginine), are often present in CF patients with clinically mild lung disease and pancreatic sufficiency. Login to comment 170 ABCC7 p.Arg117His ABCC7 p.Arg117His We have examined the NPD of one such patient (genotype Ȳc;F508-R117H) who is pancreatic sufficient and has an elevated sweat chloride concentration. Login to comment 181 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Measurement of the NPD in five CF patients with another partially functional CFTR mutation, A455E (substitution of glutamate for alanine at position 455) have recently been published (26). Login to comment 184 ABCC7 p.Arg117His ABCC7 p.Ala455Glu It is possible, even though R117H and A455E are both partially functional CFTR mutations, that their interactions with other (as yet undetermined) cellular constituents might differ, and thereby alter NPD responses. Login to comment 194 ABCC7 p.Arg117His Patients with mutations that decrease, but do not eliminate, CFTR activity such as R117H, have elevated sweat chloride concentrations characteristic of CF, but are typically pancreatic sufficient and have relatively mild lung disease (25). Login to comment 195 ABCC7 p.Arg117His In the Johns Hopkins Hospital Cystic Fibrosis Center, there are two patients with genotype R117H/⌬F508. Login to comment